Canonical Allele Identifier: CA304445581
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs958695275
gnomAD v2: 19-4090417-AG-A
gnomAD v3: 19-4090419-AG-A
gnomAD v4: 19-4090419-AG-A
MyVariant Identifiers: chr19:g.4090418del (hg19) chr19:g.4090420del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090421del , CM000681.2:g.4090421del GRCh38
NC_000019.9:g.4090419del , CM000681.1:g.4090419del GRCh37
NC_000019.8:g.4041419del NCBI36
NG_007996.1:g.38709del , LRG_750:g.38709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1820del
ENST00000688751.1:n.517del
ENST00000689792.1:n.1285del
ENST00000262948.10:c.*178del MANE Select ENSP00000262948.4:n.*178del
ENST00000262948.9:c.*178del ENSP00000262948.3:n.*178del
ENST00000394867.8:c.*178del ENSP00000378336.1:n.*178del
ENST00000600584.5:n.2830del
ENST00000601786.5:n.1682del
NM_030662.3:c.*178del , LRG_750t1:c.*178del NP_109587.1:n.*178del
XM_006722799.2:c.*178del XP_006722862.1:n.*178del
XM_011528133.1:c.*178del XP_011526435.1:n.*178del
NM_030662.4:c.*178del MANE Select NP_109587.1:n.*178del
Search 100 bp 5'
Search 100 bp 3'